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Opn1sw Gene Detail
Summary
  • Symbol
    Opn1sw
  • Name
    opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)
  • Synonyms
    Bcp, Blue Cone Opsin, Blue Opsin, Blue/UV Opsin, Short Wavelength Sensitive opsin, S Opsin, SWS opsin, UV cone pigment
  • Feature Type
    protein coding gene
  • IDs
    MGI:99438
    NCBI Gene: 12057
  • Gene Overview
    MyGene.info: OPN1SW
Location & Maps
more
  • Sequence Map
    Chr6:29376671-29388468 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      11798 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 12.36 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    OPN1SW, opsin 1 (cone pigments), short-wave-sensitive
  • Vertebrate Orthologs
    9
  • Human Ortholog
    OPN1SW, opsin 1 (cone pigments), short-wave-sensitive
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BCP, BOP, CBT
  • Links
    NCBI Gene ID: 611
    neXtProt AC: NX_P03999

  • Chr Location
    7q32.1; chr7:128772489-128775790 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human OPN1SW associations

Human Disease Mouse Models
       Tritanopia   OMIM: 190900
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Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 2 alleles in 2 genetic backgrounds
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-in allele exhibit abnormal cone physiology.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022747 VEGA Gene Model | MGI Sequence Detail 11798 C57BL/6J ±  kb
transcript OTTMUST00000054593 VEGA | MGI Sequence Detail 2410 Not Applicable  
polypeptide OTTMUSP00000026075 VEGA | MGI Sequence Detail 346 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    59 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000001195 short-wave-sensitive opsin 1
  • InterPro Domains
    IPR017452 GPCR, rhodopsin-like, 7TM
    IPR000276 G protein-coupled receptor, rhodopsin-like
    IPR001760 Opsin
    IPR001521 Opsin, blue sensitive
    IPR027430 Visual pigments (opsins) retinal binding site
Molecular
Reagents
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  • All nucleic 34
    Genomic 2
    cDNA 24
    Primer pair 8

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-16202, MGI:2141695
References
more
  • Summaries
    All 85
    Developmental Gene Expression 46
    Gene Ontology 11
    Phenotypes 7
  • Earliest
    J:49034 Weitz CJ, et al., Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment [letter]. Am J Hum Genet. 1992 Aug;51(2):444-6
  • Latest
    J:227078 Buhr ED, et al., Neuropsin (OPN5)-mediated photoentrainment of local circadian oscillators in mammalian retina and cornea. Proc Natl Acad Sci U S A. 2015 Oct 20;112(42):13093-8

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory